Objective:To investigate the efficacy and safety of ketogenic diet (KD) therapy in the epilepsy of infancy with migrating focal seizures (EIMFS) associated with TBC1D24 gene mutation.Methods:Clinical data of two children with TBC1D24 gene-related EIMFS were collected retrospectively, who were admitted to Department of Pediatrics, Fujian Medical University Union Hospital from 2019 to 2020. Their clinical characteristics and the efficacy and safety of KD therapy were analyzed, and literature review was conducted.Results:Seizures were onset before six months old in the two children with TBC1D24 gene-related EIMFS. Multifocal myoclonic seizures were manifested and happened frequently, lasting for more than 30 minutes sometimes. Developmental retardation was obvious in the two children. A small amount of focal sharp, spike, sharp-slow complex, and spike-slow complex waves were showed in the interictal electroencephalography (EEG). TBC1D24 gene mutations were found in the two children, one with a compound heterozygous mutation (c.1025C>T, p.S342L; c.229_c.240delATCGTGGGCAAG,p.I77_K80del), and the other with a homozygous mutation [c.119G>A,p.R40H(Arg40His)]. Both of those were potentially pathogenic. A variety of anti-epileptic drugs showed poor outcome for the two children. The epilepsy was drug-refractory one. After four to 17 months of KD therapy, the epilepsy in the two children was controlled effectively. There was not obvious adverse reactions. Among six children with TBC1D24 gene-related EIMFS in the literature review, four cases were effective or partially effective for KD therapy, one was discontinued due to insufficient ketogenic ratio, and one was discontinued without effect. There were no obvious adverse reactions in the six children.Conclusions:TBC1D24 gene-related EIMFS is mostly drug-refractory epilepsy. Early KD therapy may help to control seizures.

Objective To explore the significance of serum cytokine interferon-gamma (IFN-γ) ,interleukin-4(IL ) ,transforming growth factor-beta 1 (TGF-β1) ,interleukin-9 (IL-9) ,interleukin-17 (IL-17) in detection of youth first-episode depression .Methods Ninety cases of youth first-episode depression as the experimental group were equally divided into 3 groups according to different disease courses(<6 months ,6 months to 2 years ,>2 years)and other 30 normal persons served as the control group .The levels of serum cytokines were measured by ELISA .The level of each cytokine and Hamilton Depression Scale (HAMD) score were per-formed the Spearman correlation analysis .Results The IL-9 level in the 6 months to 2 years group and > 2 years group was high-er than that in the control group (P< 0 .05);the IFN-γlevel was negatively correlated with psychic anxiety (P<0 .05);the IL-9 level was positively correlated with the somatic anxiety and systemic symptoms (P<0 .05);the IL-17 level was positively correla-ted with the depressive mood and suicide (P<0 .05);the IFN-γlevel was positively correlated with difficulty falling asleep ,early a-wakening ,work and interest in the 6 months to 2 years group ,while positively correlated with somatic anxiety (P<0 .05);the IFN-γ level was positively correlated with depressive mood and block in the >2 years group(P<0 .05);the IL-4 level was positively correlated with the depressive mood (P<0 .05) .Conclusion Different cytokines play different roles in youth first-episode depres-sion ,cytokines may involve in the occurrence and development of depression .

Objective To evaluate the effect of intrathecal resveratrol on activation of Ca2+/ calmodulin-dependent protein kinase Ⅱ (CaMK Ⅱ) in spinal dorsal horn neurons of rats with bone cancer pain.Methods Thirty-two adult female Sprague-Dawley rats,weighing 180-220 g,were equally randomized into 4 groups using a random number table:sham operation group (group S),bone cancer pain group (B group),and bone cancer pain + solvent control group (BD group).Walker 256 mammary gland cancer cell suspension (4× 105 cells/ml) 5 μl was injected into the medullary cavity of the right tibia in B,BR and BD groups.Normal saline 5 μl was given in group S.On 12,13 and 14 days after injection of mammary gland cancer cells,resveratrol 200 μg/10 μl was injected intrathecally once a day in group BR,and 1％ dimethyl sulfoxide 10 μl was intrathecally injected once a day in group BD.Before injection of mammary gland cancer cells (T0) and on 3,5,7,10,12 and 14 days after injection of mammary gland cancer cells (T1-6),mechanical paw withdrawal threshold (MWT) and thermal paw withdrawal latency (TWL) were measured.The rats were then sacrificed and L4,5 segments of the spinal cord were removed for confirmation of the location of phosphorylated CaMK Ⅱ (p-CaMK Ⅱ) in spinal dorsal horn neurons (by immunofluorescence) and for detection of p-CaMK lⅡ expression (using Western blot).Results Compared with group S,MWT and TWL were significantly decreased at T2-6,and p-CaMK Ⅱ expression was upregulated at T6,and p-CaMK Ⅱ was mainly co-expressed with neurons in B,BR and BD groups.Compared with group B,MWT and TWL were significantly increased at T5,6,and p-CaMK Ⅱ expression was down-regulated at T6 in group BR.There was no significant difference in MWT,TWL,and p-CaMK Ⅱ expression at each time point between group B and group BD.Conclusion Resveratrol can alleviate hyperalgesia in rats with bone cancer pain and inhibited activation of CaMK Ⅱ in spinal dorsal horn neurons may be involved in the mechanism.

Objective To evaluate the clinical curative effect of Qianlietai tablets on curing the chronic-abac- terial-prostatitis.Methods A 6 to 24 months observation was performed of 45 cases of sufferers of chronic-abacterial prostatitis who were supposed to take Qianlietai tablets 3 times per day with 5 pieces each time.The before and after treatment change of the chronic abacterial prostatitis symptom grade and the numbers of leucocytes examinated in the normal inspection of prostate succus were compared,the side-effects of the treatment were observed as well.Re- suits After the treatment,there were 16 cured cases,15 effective cases,8 markedly effective cases and 6 non-effec- tive cases in the total 45 cases of sufferers.Conclusion Qianlietai tablets has a clear curative effect on curing chronic abacterial prostatitis with a good tolerance.

OBJECTIVE: To investigate the level of life quality and the influence factors and to furnish basis for improving life quality and treatment compliance of patients with allerge rhinitis. METHOD: Adopt the rhino conjunctivitis quality of life questionnaire (RQLQ), visual analogue scales (VAS), curing to obey the sex grade point questionnaire. quality of life and patient's compliance on cross-sectional study. One hundred and twenty the examples enter the inquisitional sufferer to press whether accepted to is divided into the A1 set and B1 sets with the medicine leading and whether accepted to use the medicine the direct is divided into the A2 set and B2 sets, the A set accepts use the medicine leading and use the medicine direct. Multiple databases were established based on questionnaire. SPSS 17.0 software was used in statistical analysis. RESULT: Coefficient correlation of patient's compliance, cognition level, questionnaire with quality of life has statistical significance, and is positive correlation. CONCLUSION Treatment compliance of patients, duration and level of education have great impact on the quality of life for patients AR. Enhance patient compliance with treatment can improve the quality of life of patients with AR.
Cross-Sectional Studies ; Humans ; Patient Compliance ; Quality of Life ; Rhinitis, Allergic ; epidemiology ; therapy ; Risk Factors ; Surveys and Questionnaires

Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels. A unique cataract was observed in a 4-generation Chinese family, which was characterized by autosomal dominant inheritance and late-onset. Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear. This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene. Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes. The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family, and only several single-nucleotide polymorphisms (SNPs) were identified. A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family, but further study showed that these mutations could also be found in normal controls. It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family. A genome-wide screening will be carried out in the next study.

Objective To establish a method of isolation and purification of rat skeletal muscle satellite cells,and observe the characteristics of proliferation and myotube cell formation of skeletal muscle satellite cells cultured in vitro. MethodsPurified skeletal muscle satellite cells were obtained by improved two-step enzymatic digestion method and pre-plating technique.Immunohistochemical staining was employed to identify the skeletal muscle satellite cells cultured in vitro.The growth of skeletal muscle satellite cells cultured in vitro was examined by MTT assay.The differentiation of skeletal muscle satellite cells was observed by inverted microscopy. Results The skeletal muscle satellite cells with higher purity were obtained and confirmed by the high expression of desmin.When cultured in vitro,the latent phase of skeletal muscle satellite cells was the first to the second day,and the platform phase was the fifth to the sixth day.Myotube cells gradually formed when cell confluence was more than 60% to 70% or differential medium with lower fetal bovine serum was used.Conclusion The combination of improved two-step enzymatic digestion method and pre-plating technique serve as an easy and practical way to obtain skeletal muscle satellite cells with higher purity.Skeletal muscle satellite cells can form myotube cells with contraction characteristics without any special induction.

Objective To study the clinical and immunologic features of 67 cases of patients with scrub typhus.Methods Epidemiological data,clinical manifestations,laboratory and image examination results and treatment of 67 cases of patients with scrub typhus hospitalized from January 2010 to December 2013 at the First Affiliated Hospital of Nanjing Medical University were retrospectively analyzed.Results Autumn-winter type scrub typhus was predominant in the 67 patents.The main clinical manifestations included hyperpyrexia (100％,67/ 67),eschar or ulcer (91.0％,61/67),rash (52.2％,35/67),lymphadenopathy (46.3％,31/67) and other non-specific symptoms.Laboratory test results:①80.6％ (54/67) of the patients had normal or decreased white blood cell count,62.7％ (42/67) of them with elevated lymphocytes (＞ 40％),thrombocytopenia was detected in 34.3％ (23/67) of the patients,the lowest platelets count was 14 × 109/L.②14 of 17 cases (82.4％) had normal percentage of CD3+ T lymphocytes,CD8+ T lymphocytes increased in 16 of 17 cases (94.1％),while the percentage of CD4+ T lymphocytes (14 of 17,82.4％) and B lymphocytes (15 of 17,88.2％) decreased in most of the patients.③C reactive protein (CRP),ferritin and erythrocyte sedimentation rate (ESR) were elevated in 95.2％ (59/62),93.8％ (45/48) and 89.1％ (49/55) of the patients,respectively.④Elevated alanine aminotransferase (77.6％,52/67) and aspartate aminotransferase (80.6％,54/67) were frequent findings.⑤94.6％ (35/37) of the patients had increased adenosine deaminase.⑥ Antinuclear antibody was positive in 31.0％ (13/42) patients.⑦Epstein-barr virus DNA was detected in 15.6％ (7/ 45) cases,77.6％ (38/49) was accompanied with chest radiographic abnormalities.Two cases had tuberculosis.All the patients recovered after therapy with doxycycline,levofloxacin or moxifloxacin.Conclusion Autumn-winter scrub typhus has typical clinical manifestations in the 67 patients,and it can cause patients' immune disorders.

From the N-terminal amino acid sequence of the Aspergillus niger F044 lipase,a potential homologous gene A84689 to the anl(the gene encoding the Aspergillus niger lipase)was found by means of bioinformatics.Based on the nucleotide sequence of the A84689,primers were designed to amplify anl.Nucleotide sequencing of the genomic anl gene revealed an open reading frame of 1 044 nucleotides,containing three introns(54,45 and 51 nucleotides).The deduced amino acid sequence of the anl gene corresponds to 297 amino acid residues including a signal sequence of 27 amino acid residues.The cloned cDNA coding for mature Anl(the protein of the Aspergillus niger lipase)was overexpressed in Escherichia coli BL21(De3),and the recombinant Anl was purified.The denatured recombinant Anl by 8mol/L urea was refolded in vitro by dilution and DEAE Sepharose Fast Flow chromatography.

Objective To study the biological activities of Synechococcus sp.PCC7942 with trans-mutated hCu,Zn-SOD-gene.Methods Synechococcus sp.PCC7942 with trans-mutated hCu,Zn-SOD were administered orally for 20d to mice,then the activities of glutathione peroxidase(GSH-Px),catalase(CAT),superoxide dismutase(SOD) and the content of malondialdehyde(MDA) were determined.Results The activities of GSHPx in serum and the activities of CAT in blood increased obviously;the activity of SOD in serum and liver increased markedly;the content of MDA in serum and liver decreased obviously.Conclusion Synechococcus sp.PCC7942 with trans-mutated hCu,Zn-SOD-gene had obvious antioxidant effect in vivo.